TP53BP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 154715	GRCh38/hg38 15q15.2-15.3(chr15:43298918-43558944)x3	ADAL, LCMT2 +11 more	Copy number gain	See cases	GBenign
Select item 2761778	NM_001141980.3(TP53BP1):c.*3718T>C	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2097750	NM_001141980.3(TP53BP1):c.*3718T>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1968980	NM_001141980.3(TP53BP1):c.*3714AG[1]	TUBGCP4, TP53BP1	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1899962	NM_001141980.3(TP53BP1):c.*3717G>C	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2102341	NM_001141980.3(TP53BP1):c.*3714A>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2100317	NM_001141980.3(TP53BP1):c.*3711A>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1378746	NM_001141980.3(TP53BP1):c.*3706C>T	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1036151	NM_001141980.3(TP53BP1):c.*3705C>T	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1297553	NM_014444.5(TUBGCP4):c.1733T>C (p.Val578Ala)	TP53BP1, TUBGCP4 (V578A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1145870	NM_014444.5(TUBGCP4):c.1740C>T (p.His580=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 190123	NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1046474	NM_014444.5(TUBGCP4):c.1760A>C (p.Asp587Ala)	TP53BP1, TUBGCP4 (D588A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1370123	NM_014444.5(TUBGCP4):c.1778G>A (p.Cys593Tyr)	TP53BP1, TUBGCP4 (C594Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 741414	NM_014444.5(TUBGCP4):c.1781C>T (p.Ser594Leu)	TP53BP1, TUBGCP4 (S594L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1532711	NM_014444.5(TUBGCP4):c.1782G>A (p.Ser594=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1454253	NM_014444.5(TUBGCP4):c.1784dup (p.Val596fs)	TP53BP1, TUBGCP4 (V596fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3184812	NM_014444.5(TUBGCP4):c.1799T>C (p.Leu600Pro)	TP53BP1, TUBGCP4 (L600P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2110630	NM_014444.5(TUBGCP4):c.1810G>A (p.Asp604Asn)	TP53BP1, TUBGCP4 (D604N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1944439	NM_014444.5(TUBGCP4):c.1816C>T (p.Arg606Cys)	TP53BP1, TUBGCP4 (R607C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1420126	NM_014444.5(TUBGCP4):c.1817G>A (p.Arg606His)	TP53BP1, TUBGCP4 (R606H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3008304	NM_014444.5(TUBGCP4):c.1824C>T (p.Ala608=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1435888	NM_014444.5(TUBGCP4):c.1825G>T (p.Ala609Ser)	TP53BP1, TUBGCP4 (A609S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1369895	NM_014444.5(TUBGCP4):c.1825G>A (p.Ala609Thr)	TP53BP1, TUBGCP4 (A609T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1533638	NM_014444.5(TUBGCP4):c.1842C>T (p.Leu614=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1999023	NM_014444.5(TUBGCP4):c.1843G>C (p.Val615Leu)	TP53BP1, TUBGCP4 (V616L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 848433	NM_014444.5(TUBGCP4):c.1843G>T (p.Val615Leu)	TP53BP1, TUBGCP4 (V615L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1338423	NM_001141980.3(TP53BP1):c.3580_3581del	TP53BP1, TUBGCP4	Deletion (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 1513915	NM_001141980.3(TP53BP1):c.*3579C>T	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1939987	NM_001141980.3(TP53BP1):c.*3577G>C	TUBGCP4, TP53BP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1640427	NM_001141980.3(TP53BP1):c.*3572A>C	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1925083	NM_001141980.3(TP53BP1):c.*3571del	TP53BP1, TUBGCP4	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1908738	NM_001141980.3(TP53BP1):c.*3567C>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1255356	NM_001141980.3(TP53BP1):c.*3412dup	TP53BP1, TUBGCP4	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2810591	NM_001141980.3(TP53BP1):c.*2990G>C	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1532637	NM_001141980.3(TP53BP1):c.2987_2988dup	TP53BP1, TUBGCP4	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2707528	NM_001141980.3(TP53BP1):c.*2988C>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2110836	NM_001141980.3(TP53BP1):c.2981_2983del	TP53BP1, TUBGCP4	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1975092	NM_001141980.3(TP53BP1):c.*2976GA[2]	TP53BP1, TUBGCP4	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1955792	NM_001141980.3(TP53BP1):c.*2981A>G	TP53BP1, TUBGCP4	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1305035	NM_014444.5(TUBGCP4):c.1849G>T (p.Gly617Cys)	TP53BP1, TUBGCP4 (G617C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1497593	NM_014444.5(TUBGCP4):c.1858C>T (p.Arg620Cys)	TP53BP1, TUBGCP4 (R621C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1388231	NM_014444.5(TUBGCP4):c.1880A>G (p.Lys627Arg)	TP53BP1, TUBGCP4 (K627R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2606052	NM_014444.5(TUBGCP4):c.1891A>G (p.Ser631Gly)	TP53BP1, TUBGCP4 (S632G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 953297	NM_014444.5(TUBGCP4):c.1898G>A (p.Arg633Gln)	TP53BP1, TUBGCP4 (R633Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1938622	NM_014444.5(TUBGCP4):c.1899G>C (p.Arg633=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2124309	NM_014444.5(TUBGCP4):c.1911del (p.Asn638fs)	TP53BP1, TUBGCP4 (N639fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1113005	NM_014444.5(TUBGCP4):c.1926T>C (p.Ala642=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1325318	NM_014444.5(TUBGCP4):c.1939C>T (p.Arg647Ter)	TP53BP1, TUBGCP4 (R647* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1126820	NM_014444.5(TUBGCP4):c.1939C>A (p.Arg647=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1477273	NM_014444.5(TUBGCP4):c.1946A>C (p.Asp649Ala)	TP53BP1, TUBGCP4 (D649A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1087293	NM_014444.5(TUBGCP4):c.1950T>C (p.Tyr650=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2269219	NM_014444.5(TUBGCP4):c.1964C>A (p.Thr655Asn)	TP53BP1, TUBGCP4 (T655N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 437139	NM_014444.5(TUBGCP4):c.1965C>A (p.Thr655=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1461201	NM_001141980.3(TP53BP1):c.*2826C>T	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1961952	NM_001141980.3(TP53BP1):c.*2815C>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1926943	NM_001141980.3(TP53BP1):c.*2814C>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2793020	NM_001141980.3(TP53BP1):c.*2813C>T	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1651871	NM_001141980.3(TP53BP1):c.*2811T>C	TP53BP1, TUBGCP4	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1274313	NM_001141980.3(TP53BP1):c.*2488G>A	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1410082	NM_001141980.3(TP53BP1):c.2193_2200del	TP53BP1, TUBGCP4	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1942656	NM_001141980.3(TP53BP1):c.*2198G>C	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1534669	NM_001141980.3(TP53BP1):c.*2197A>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1530989	NM_001141980.3(TP53BP1):c.*2194A>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1086276	NM_001141980.3(TP53BP1):c.*2189A>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2026986	NM_001141980.3(TP53BP1):c.*2188A>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2044433	NM_014444.5(TUBGCP4):c.1989T>C (p.Ser663=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2244079	NM_014444.5(TUBGCP4):c.1992C>G (p.Phe664Leu)	TP53BP1, TUBGCP4 (F665L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1112285	NM_014444.5(TUBGCP4):c.1992C>T (p.Phe664=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1337041	NM_014444.5(TUBGCP4):c.1993G>A (p.Gly665Arg)	TP53BP1, TUBGCP4 (G665R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1053716	NM_014444.5(TUBGCP4):c.1998G>A (p.Met666Ile)	TUBGCP4, TP53BP1 (M666I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3181404	NM_001141980.3(TP53BP1):c.5813G>A (p.Cys1938Tyr)	TP53BP1, TUBGCP4 (C1888Y +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2346229	NM_001141980.3(TP53BP1):c.5761G>A (p.Val1921Ile)	TP53BP1, TUBGCP4 (V1919I +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2332623	NM_001141980.3(TP53BP1):c.5753C>G (p.Ala1918Gly)	TP53BP1, TUBGCP4 (A1913G +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3055052	NM_001141980.3(TP53BP1):c.5696C>G (p.Thr1899Ser)	TP53BP1, TUBGCP4 (T1849S +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	TP53BP1-related disorder	GLikely benign
Select item 770785	NM_001141980.3(TP53BP1):c.5490T>C (p.Cys1830=)	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1525981	NM_001141980.3(TP53BP1):c.5306-2A>G	TUBGCP4, TP53BP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 2288785	NM_001141980.3(TP53BP1):c.5291G>T (p.Ser1764Ile)	TP53BP1 (S1764I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311932	NM_001141980.3(TP53BP1):c.5264A>T (p.Lys1755Ile)	TP53BP1 (K1755I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040718	NM_001141980.3(TP53BP1):c.5257C>T (p.Arg1753Cys)	TP53BP1 (R1703C +4 more)	Single nucleotide variant (missense variant)	TP53BP1-related disorder	GLikely benign
Select item 2591336	NM_001141980.3(TP53BP1):c.5165A>T (p.Glu1722Val)	TP53BP1 (E1672V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257024	NM_001141980.3(TP53BP1):c.5116A>T (p.Ser1706Cys)	TP53BP1 (S1656C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366392	NM_001141980.3(TP53BP1):c.5099G>T (p.Gly1700Val)	TP53BP1 (G740V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358504	NM_001141980.3(TP53BP1):c.4996A>G (p.Met1666Val)	TP53BP1 (M1616V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337917	NM_001141980.3(TP53BP1):c.4752G>T (p.Lys1584Asn)	TP53BP1 (K1579N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181403	NM_001141980.3(TP53BP1):c.4538G>A (p.Arg1513Gln)	TP53BP1 (R553Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776885	NM_001141980.3(TP53BP1):c.4332C>T (p.Val1444=)	TP53BP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728236	NM_001141980.3(TP53BP1):c.4308A>G (p.Pro1436=)	TP53BP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3181402	NM_001141980.3(TP53BP1):c.4288A>G (p.Ile1430Val)	TP53BP1 (I1425V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181401	NM_001141980.3(TP53BP1):c.4270C>G (p.Pro1424Ala)	TP53BP1 (P1424A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181400	NM_001141980.3(TP53BP1):c.4256C>T (p.Thr1419Ile)	TP53BP1 (T1419I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747273	NM_001141980.3(TP53BP1):c.4196C>T (p.Thr1399Met)	TP53BP1 (T1394M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1334467	NM_001141980.3(TP53BP1):c.4100+1G>A	TP53BP1	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 3181399	NM_001141980.3(TP53BP1):c.4054G>A (p.Ala1352Thr)	TP53BP1 (A1352T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466186	NM_001141980.3(TP53BP1):c.4046C>T (p.Thr1349Ile)	TP53BP1 (T1349I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457893	NM_001141980.3(TP53BP1):c.3951A>T (p.Leu1317Phe)	TP53BP1 (L1312F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181397	NM_001141980.3(TP53BP1):c.3899C>T (p.Ser1300Phe)	TP53BP1 (S1300F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181396	NM_001141980.3(TP53BP1):c.3761T>G (p.Leu1254Arg)	TP53BP1 (L1249R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619753	NM_001141980.3(TP53BP1):c.3715C>A (p.His1239Asn)	TP53BP1 (H1239N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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